Dermatologic Manifestations of Phenylketonuria Workup

  • Author: Zeljko P Mijuskovic, MD, PhD; Chief Editor: Dirk M Elston, MD   more...
 
Updated: Aug 15, 2011
 

Laboratory Studies

Three methods of newborn screening are currently in use: Guthrie card bacterial inhibition assay, fluorometric analysis, and tandem mass spectrometry. Results of urine tests (ie, ferric chloride test) may be negative in the first month of life.

Perform urinalysis of biopterin and neoptrins to exclude defects of biopterin synthesis or recycling.

Wide variability in Phe concentrations in a 24-hour period in children with phenylketonuria (PKU) may require repeat screening.

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Imaging Studies

Perform cranial MRI in adults who have neurologic dysfunction; the most severely affected brain structures regarding volume loss are the cerebrum, corpus callosum, hippocampus, and pons.[9]

Perform cranial magnetic resonance spectroscopy to determine brain metabolite concentrations and brain compartmentation.

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Other Tests

Prenatal diagnosis for pregnancies at increased risk is possible by analysis of DNA extracted from fetal cells obtained by amniocentesis usually performed at about 15-18 weeks' gestation or chorionic villus sampling at about 10-12 weeks' gestation.

Abnormal EEG findings may be present.

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Contributor Information and Disclosures
Author

Zeljko P Mijuskovic, MD, PhD  Associate Professor of Dermatology, Department of Dermatology and Venereology, Military Medical Academy, Serbia

Zeljko P Mijuskovic, MD, PhD is a member of the following medical societies: European Academy of Dermatology and Venereology, European Society for Dermatological Research, International Society of Dermatology, and Serbian Association of DermatoVenereologists

Disclosure: Nothing to disclose.

Coauthor(s)

Djordjije Karadaglic, MD, DSc  Professor, School of Medicine, University of Podgorica, Podgorica, Montenegro

Djordjije Karadaglic, MD, DSc is a member of the following medical societies: American Academy of Dermatology, European Academy of Dermatology and Venereology, and Serbian Association of DermatoVenereologists

Disclosure: Nothing to disclose.

Ljubomir Stojanov, MD, PhD  Lecturer in Metabolism and Clinical Genetics, University of Belgrade School of Medicine, Serbia

Disclosure: Nothing to disclose.

Specialty Editor Board

Mark A Crowe, MD  Assistant Clinical Instructor, Department of Medicine, Division of Dermatology, University of Washington School of Medicine

Mark A Crowe, MD is a member of the following medical societies: American Academy of Dermatology and North American Clinical Dermatologic Society

Disclosure: Nothing to disclose.

David F Butler, MD  Professor of Dermatology, Texas A&M University College of Medicine; Chair, Department of Dermatology, Director, Dermatology Residency Training Program, Scott and White Clinic, Northside Clinic

David F Butler, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American Medical Association, American Society for Dermatologic Surgery, American Society for MOHS Surgery, Association of Military Dermatologists, and Phi Beta Kappa

Disclosure: Nothing to disclose.

Robert A Schwartz, MD, MPH  Professor and Head, Dermatology, Professor of Pathology, Pediatrics, Medicine, and Preventive Medicine and Community Health, University of Medicine and Dentistry of New Jersey-New Jersey Medical School

Robert A Schwartz, MD, MPH is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American College of Physicians, and Sigma Xi

Disclosure: Nothing to disclose.

Catherine M Quirk, MD  Clinical Assistant Professor, Department of Dermatology, University of Pennsylvania

Catherine M Quirk, MD is a member of the following medical societies: Alpha Omega Alpha and American Academy of Dermatology

Disclosure: Nothing to disclose.

Chief Editor

Dirk M Elston, MD  Director, Ackerman Academy of Dermatopathology, New York

Dirk M Elston, MD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Nothing to disclose.

Acknowledgments

The authors and editors of eMedicine gratefully acknowledge the contributions of previous Chief Editor, William D. James, MD, to the development and writing of this article.

References

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  15. Waisbren SE, Noel K, Fahrbach K, et al. Phenylalanine blood levels and clinical outcomes in phenylketonuria: a systematic literature review and meta-analysis. Mol Genet Metab. Sep-Oct 2007;92(1-2):63-70. [Medline].

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  17. Macdonald A, Davies P, Daly A, et al. Does maternal knowledge and parent education affect blood phenylalanine control in phenylketonuria?. J Hum Nutr Diet. Aug 2008;21(4):351-8. [Medline].

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Fair skin and hair resulting from impairment of melanin synthesis.
 
 
 
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